ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1503C>T (p.Asp501=)

gnomAD frequency: 0.01665  dbSNP: rs116046557
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180480 SCV000232933 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000625011 SCV000407880 likely benign Niemann-Pick disease, type C1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625011 SCV000743487 likely benign Niemann-Pick disease, type C1 2017-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625011 SCV001005007 benign Niemann-Pick disease, type C1 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000675576 SCV001834831 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000625011 SCV002813004 benign Niemann-Pick disease, type C1 2022-03-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675576 SCV005215169 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625011 SCV000745715 likely benign Niemann-Pick disease, type C1 2017-11-10 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675576 SCV000801267 benign not provided 2017-09-27 no assertion criteria provided clinical testing
Natera, Inc. RCV000625011 SCV001455873 benign Niemann-Pick disease, type C1 2020-09-16 no assertion criteria provided clinical testing

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